Table 2.

Contribution of ATM variants in cancer (other than breast) susceptibility in studies presented at the workshop.

Country	Study	Speaker	Population	Main findings	Reference
Norway	Hereditary Cancer Biobank	M. Dominguez Valentin (Oslo University Hospital, Oslo)	1,967 familial cancer cases negative for pathogenic variants in the BRCA1/2, PTEN, TP53 or MMR genes.	11 LoF carriers were identified among 1967 cases (12% colon cancer, 6% rectal cancer, 7% breast cancer, and 6% prostate cancer). Among LoF carriers, 4 had breast or ovarian cancer, 1 colon cancer, 1 testis cancer, 1 thyroid cancer and 4 were healthy members of cancer kindreds. 2 VUS were also identified (0.1%) No reported ORs associated with ATM variants.	Unpublished data
Texas, USA	Clinical Cancer Genetics Program	B. Arun (University of Texas MD Anderson Cancer Center, Houston)	7,306 patients for hereditary cancer evaluation: breast (68%), genitourinary (10%), pancreatic (5%), thyroid (2%), or ovarian (2%) cancer, melanoma (2%).	148 deleterious variant carriers (2.0%) were identified and 312 VUS carriers (4.7%). ATM carriers’ distribution by cancer type was: leukemia 4%, pancreatic cancer 3.7%, gynecologic cancer 3.5%, gastrointestinal cancer 2.7%, genitourinary cancer 2.6%, thyroid cancer 1.7% and breast cancer 1.4%. 23% of the ATM variant carriers versus 18% of non-carriers had multiple primary cancers. Moreover, having a family history of breast, pancreatic, or gynecologic cancer, or lymphoma was more common in ATM variant carriers as compared to non-carriers. No reported ORs associated with ATM variants.	Unpublished data
United Kingdom (UK)		D.F Easton (University of Cambridge, Cambridge)	1,160 relatives of 169 A-T patients.	Excess risk of cancer other than breast cancer in relatives, with suggestive increased risks of colorectal and stomach cancers.	17
France	CoF-AT2 study	N. Andrieu (Inserm U900, Paris)	9,215 relatives of 135 French A-T index cases	Excess risks of leukemia, lymphoma and pancreatic cancer in HetATM	Unpublished data